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Gene: EXPH5 |
Gene summary for EXPH5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EXPH5 | Gene ID | 23086 |
| Gene name | exophilin 5 | |
| Gene Alias | SLAC2-B | |
| Cytomap | 11q22.3 | |
| Gene Type | protein-coding | GO ID | GO:0002064 | UniProtAcc | Q149M6 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 23086 | EXPH5 | HTA11_347_2000001011 | Human | Colorectum | AD | 4.08e-29 | 1.10e+00 | -0.1954 |
| 23086 | EXPH5 | HTA11_411_2000001011 | Human | Colorectum | SER | 5.94e-07 | 1.15e+00 | -0.2602 |
| 23086 | EXPH5 | HTA11_866_2000001011 | Human | Colorectum | AD | 7.01e-03 | 4.24e-01 | -0.1001 |
| 23086 | EXPH5 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.62e-15 | -4.93e-01 | 0.3005 |
| 23086 | EXPH5 | A015-C-203 | Human | Colorectum | FAP | 1.73e-16 | 2.39e-02 | -0.1294 |
| 23086 | EXPH5 | A002-C-201 | Human | Colorectum | FAP | 2.35e-05 | -1.05e-01 | 0.0324 |
| 23086 | EXPH5 | A001-C-119 | Human | Colorectum | FAP | 1.52e-03 | 1.24e-01 | -0.1557 |
| 23086 | EXPH5 | A001-C-108 | Human | Colorectum | FAP | 2.04e-11 | 3.03e-01 | -0.0272 |
| 23086 | EXPH5 | A002-C-205 | Human | Colorectum | FAP | 3.85e-14 | 8.96e-02 | -0.1236 |
| 23086 | EXPH5 | A015-C-006 | Human | Colorectum | FAP | 5.49e-07 | -2.35e-01 | -0.0994 |
| 23086 | EXPH5 | A015-C-106 | Human | Colorectum | FAP | 2.37e-06 | 4.44e-02 | -0.0511 |
| 23086 | EXPH5 | A002-C-114 | Human | Colorectum | FAP | 8.54e-09 | -1.08e-01 | -0.1561 |
| 23086 | EXPH5 | A015-C-104 | Human | Colorectum | FAP | 2.53e-17 | 2.14e-02 | -0.1899 |
| 23086 | EXPH5 | A001-C-014 | Human | Colorectum | FAP | 5.17e-09 | 1.24e-01 | 0.0135 |
| 23086 | EXPH5 | A002-C-016 | Human | Colorectum | FAP | 1.21e-11 | -1.10e-01 | 0.0521 |
| 23086 | EXPH5 | A015-C-002 | Human | Colorectum | FAP | 9.82e-05 | -7.77e-02 | -0.0763 |
| 23086 | EXPH5 | A001-C-203 | Human | Colorectum | FAP | 8.10e-03 | 7.38e-02 | -0.0481 |
| 23086 | EXPH5 | A002-C-116 | Human | Colorectum | FAP | 4.91e-22 | -1.52e-01 | -0.0452 |
| 23086 | EXPH5 | A014-C-008 | Human | Colorectum | FAP | 1.95e-10 | 2.33e-01 | -0.191 |
| 23086 | EXPH5 | A018-E-020 | Human | Colorectum | FAP | 1.14e-10 | 2.93e-02 | -0.2034 |
| Page: 1 2 3 4 5 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:000930615 | Prostate | Tumor | protein secretion | 87/3246 | 359/18723 | 5.15e-04 | 3.78e-03 | 87 |
| GO:003559215 | Prostate | Tumor | establishment of protein localization to extracellular region | 87/3246 | 360/18723 | 5.65e-04 | 4.10e-03 | 87 |
| GO:007198512 | Prostate | Tumor | multivesicular body sorting pathway | 15/3246 | 37/18723 | 7.46e-04 | 5.14e-03 | 15 |
| GO:005070814 | Prostate | Tumor | regulation of protein secretion | 66/3246 | 268/18723 | 1.49e-03 | 9.19e-03 | 66 |
| GO:005071413 | Prostate | Tumor | positive regulation of protein secretion | 38/3246 | 137/18723 | 1.60e-03 | 9.71e-03 | 38 |
| GO:190353211 | Prostate | Tumor | positive regulation of secretion by cell | 67/3246 | 282/18723 | 3.53e-03 | 1.82e-02 | 67 |
| GO:00510476 | Prostate | Tumor | positive regulation of secretion | 71/3246 | 310/18723 | 6.95e-03 | 3.13e-02 | 71 |
| GO:000854417 | Skin | AK | epidermis development | 79/1910 | 324/18723 | 1.04e-13 | 3.25e-11 | 79 |
| GO:00435889 | Skin | AK | skin development | 67/1910 | 263/18723 | 9.02e-13 | 2.14e-10 | 67 |
| GO:000206425 | Skin | AK | epithelial cell development | 51/1910 | 220/18723 | 1.50e-08 | 9.13e-07 | 51 |
| GO:00302168 | Skin | AK | keratinocyte differentiation | 35/1910 | 139/18723 | 3.27e-07 | 1.27e-05 | 35 |
| GO:000991316 | Skin | AK | epidermal cell differentiation | 45/1910 | 202/18723 | 3.50e-07 | 1.35e-05 | 45 |
| GO:190495126 | Skin | AK | positive regulation of establishment of protein localization | 60/1910 | 319/18723 | 2.14e-06 | 6.12e-05 | 60 |
| GO:005122226 | Skin | AK | positive regulation of protein transport | 56/1910 | 303/18723 | 7.96e-06 | 1.74e-04 | 56 |
| GO:00033343 | Skin | AK | keratinocyte development | 5/1910 | 13/18723 | 7.01e-03 | 3.63e-02 | 5 |
| GO:1904951112 | Skin | cSCC | positive regulation of establishment of protein localization | 134/4864 | 319/18723 | 2.60e-10 | 1.09e-08 | 134 |
| GO:0051222112 | Skin | cSCC | positive regulation of protein transport | 125/4864 | 303/18723 | 3.88e-09 | 1.32e-07 | 125 |
| GO:004358823 | Skin | cSCC | skin development | 111/4864 | 263/18723 | 6.35e-09 | 2.10e-07 | 111 |
| GO:000854425 | Skin | cSCC | epidermis development | 131/4864 | 324/18723 | 7.38e-09 | 2.39e-07 | 131 |
| GO:00719857 | Skin | cSCC | multivesicular body sorting pathway | 23/4864 | 37/18723 | 3.80e-06 | 5.70e-05 | 23 |
| Page: 1 2 3 4 5 6 7 8 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| EXPH5 | SNV | Missense_Mutation | c.2912N>A | p.Arg971Lys | p.R971K | Q8NEV8 | protein_coding | tolerated(1) | benign(0.007) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | |
| EXPH5 | SNV | Missense_Mutation | c.4975N>A | p.Leu1659Met | p.L1659M | Q8NEV8 | protein_coding | deleterious(0.04) | possibly_damaging(0.692) | TCGA-A2-A04R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD | |
| EXPH5 | SNV | Missense_Mutation | novel | c.2131G>C | p.Asp711His | p.D711H | Q8NEV8 | protein_coding | tolerated(0.18) | possibly_damaging(0.892) | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| EXPH5 | SNV | Missense_Mutation | c.1628G>T | p.Arg543Ile | p.R543I | Q8NEV8 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| EXPH5 | SNV | Missense_Mutation | novel | c.245N>C | p.Leu82Pro | p.L82P | Q8NEV8 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AC-A3TN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| EXPH5 | SNV | Missense_Mutation | c.2702N>T | p.Pro901Leu | p.P901L | Q8NEV8 | protein_coding | tolerated(0.06) | benign(0.222) | TCGA-AO-A0JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | leuprolide | SD | |
| EXPH5 | SNV | Missense_Mutation | rs777355388 | c.5638N>G | p.Ile1880Val | p.I1880V | Q8NEV8 | protein_coding | deleterious(0.02) | probably_damaging(0.911) | TCGA-BH-A1EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| EXPH5 | SNV | Missense_Mutation | c.1311N>C | p.Met437Ile | p.M437I | Q8NEV8 | protein_coding | tolerated(0.08) | benign(0.073) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR | |
| EXPH5 | SNV | Missense_Mutation | novel | c.2687N>G | p.Asp896Gly | p.D896G | Q8NEV8 | protein_coding | tolerated(0.21) | benign(0.036) | TCGA-C8-A8HR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
| EXPH5 | SNV | Missense_Mutation | c.5900N>T | p.Asp1967Val | p.D1967V | Q8NEV8 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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